Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL6A2_chr21_46093112_46134801	46120125	C C	CCCCACTG others(21): Show CCCCACTGAGGCACCACTCACACCCCCGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03453.hp2 HG02818.hp1 HG03453.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0003 a0003c0018t0003	a0003c0018t0003g0239 a0003c0018t0003g0240 a0003c0018t0003g0239 a0003c0018t0003g0240	2	242	0.0083	28	c.133 others(45): Show c.1332+289_1332+290insACTCACACCCCCGGCCCACTGAGGCACC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46120125	C C	CCCCACTG others(21): Show CCCCACTGAGGCACCACTCACACCCCCGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03453.hp2 HG02818.hp1 HG03453.hp2	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0001 a0003c0032t0001	a0003c0032t0001g0239 a0003c0032t0001g0240 a0003c0032t0001g0239 a0003c0032t0001g0240	2	241	0.0083	28	c.133 others(45): Show c.1332+289_1332+290insACTCACACCCCCGGCCCACTGAGGCACC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135886	C C	CCCCTCCC others(21): Show CCCCTCCCCAGCCTCCCCTCCCCAGCGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02015.hp2 HG02080.hp1 others(13): Show HG01884.hp2 HG02015.hp2 HG02080.hp1 HG02630.hp1 HG02717.hp1 HG02922.hp2 HG03139.hp2 HG03486.hp1 HG06807.hp1 NA18948.hp1 NA18951.hp1 NA18955.hp1 NA18985.hp2 NA18989.hp2 NA19043.hp1 NA19240.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0002 a0001c0015 a0001c0023 others(2): Show a0001c0002 a0001c0015 a0001c0023 a0005c0017 a0007c0030	a0001c0002t0002 a0001c0002t0013 a0001c0002t0014 others(4): Show a0001c0002t0002 a0001c0002t0013 a0001c0002t0014 a0001c0015t0002 a0001c0023t0001 a0005c0017t0002 a0007c0030t0002	a0001c0002t0002g0001 a0001c0002t0002g0274 a0001c0002t0002g0276 others(13): Show a0001c0002t0002g0001 a0001c0002t0002g0274 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0286 a0001c0002t0002g0292 a0001c0002t0002g0316 a0001c0002t0002g0322 a0001c0002t0013g0313 a0001c0002t0014g0326 a0001c0015t0002g0325 a0001c0023t0001g0249 a0001c0023t0001g0250 a0005c0017t0002g0257 a0007c0030t0002g0095 a0007c0030t0002g0096	16	251	0.0637	28	c.33 others(39): Show c.3334_*3335insCCCTCCCCAGCCTCCCCTCCCCAGCGTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3039		chr21	TogoVar
COL6A6_chr3_130512177_130682042	130531056	A A	AGTCTCTC others(21): Show AGTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0023 a0023	a0023c0030 a0023c0030	a0023c0030t0001 a0023c0030t0001	a0023c0030t0001g0155 a0023c0030t0001g0155	1	165	0.0061	28	c.-32 others(47): Show c.-32+13659_-32+13660insGTCTCTCTCTCTCTCTCTCTCTCTCT CT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36			chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(21): Show TATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0219 a0001c0001t0006g0219	1	198	0.0051	28	c.-12 others(49): Show c.-129+30483_-129+30484insTATATATATATATAGAGAGAGAGA GAGA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(21): Show TATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	198	0.0051	28	c.-12 others(49): Show c.-129+30483_-129+30484insTATATATATATATATATAGAGAGA GAGA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(21): Show TATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	198	0.0051	28	c.-12 others(49): Show c.-129+30483_-129+30484insTATATATATATATATATATAGAGA GAGA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0121	1	142	0.0070	28	c.-3- others(45): Show c.-3-16842_-3-16841insATATATATATATATATATATATATATTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATTA others(21): Show ATATATTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	142	0.0070	28	c.-3- others(45): Show c.-3-16842_-3-16841insATATTATATATATATATATATATATATT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATTATA others(21): Show ATATTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02145.hp2 NA18953.hp1 HG01175.hp1 HG02145.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0085 a0001c0001t0001g0162 a0001c0001t0001g0067 a0001c0001t0001g0085 a0001c0001t0001g0162	3	144	0.0208	28	c.-3- others(45): Show c.-3-16842_-3-16841insATTATATATATATATATATATATATATT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATTATA others(21): Show ATATTATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	142	0.0070	28	c.-3- others(45): Show c.-3-16842_-3-16841insATTATATATATATATATATATATATTTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773838	T T	TATATTAT others(21): Show TATATTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	237	0.0042	28	c.-3- others(45): Show c.-3-16842_-3-16841insATATTATATATATATATATATATATATA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3			chr3	TogoVar
COL8A1_chr3_99633594_99804217	99803889	T T	TTTATTAT others(21): Show TTTATTATTTATTTATTTATTTTTGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG03486.hp1 HG02280.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0006 a0001c0001t0019	a0001c0001t0006g0156 a0001c0001t0019g0037 a0001c0001t0006g0156 a0001c0001t0019g0037	2	260	0.0077	28	c.77 others(39): Show c.7753_*7754insTTATTATTTATTTATTTATTTTTGAGAC	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding		4673		chr3	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01952.hp2 HG02258.hp2 others(2): Show HG00438.hp1 HG01952.hp2 HG02258.hp2 HG03098.hp1 NA19082.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0002c0004 a0003c0006 others(1): Show a0002c0002 a0002c0004 a0003c0006 a0004c0007	a0002c0002t0001 a0002c0004t0001 a0003c0006t0003 others(1): Show a0002c0002t0001 a0002c0004t0001 a0003c0006t0003 a0004c0007t0001	a0002c0002t0001g0067 a0002c0004t0001g0061 a0003c0006t0003g0079 others(2): Show a0002c0002t0001g0067 a0002c0004t0001g0061 a0003c0006t0003g0079 a0004c0007t0001g0016 a0004c0007t0001g0025	5	165	0.0303	28	c.250 others(47): Show c.2504-1416_2504-1415insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A1_chr6_70211126_70308084	70279648	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0006 a0002c0018t0006	a0002c0018t0006g0340 a0002c0018t0006g0340	1	156	0.0064	28	c.975 others(45): Show c.975+1163_975+1164insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	10/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40318295	C C	CATACATA others(21): Show CATACATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	425	0.0024	28	c.-10 others(39): Show c.-1099_-1098insATATATATATATATATATATATATGTAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1010		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 NA18971.hp1 HG01433.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0113 a0001c0002t0001g0001 a0001c0002t0001g0113	2	130	0.0154	28	c.-11 others(39): Show c.-1118_-1117insAAAATATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119091595	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	144	0.0069	28	c.292 others(43): Show c.292+378_292+379insGAGAGAGAAAGAAAGAAAGAAAGAAAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00642.hp1 others(51): Show HG00558.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02300.hp1 HG02683.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG03139.hp1 HG03209.hp2 HG03490.hp1 HG03704.hp2 HG06807.hp1 NA18946.hp1 NA18952.hp2 NA18954.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18982.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18995.hp2 NA18997.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19057.hp2 NA19068.hp2 NA19074.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0009	a0001c0003 a0001c0004 a0001c0005 others(7): Show a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0023 a0002c0001 a0002c0007 a0003c0002 a0005c0009 a0009c0026	a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 others(34): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0003t0029 a0001c0003t0059 a0001c0003t0074 a0001c0003t0083 a0001c0003t0091 a0001c0003t0134 a0001c0004t0008 a0001c0005t0009 a0001c0005t0056 a0001c0005t0076 a0001c0008t0018 a0001c0008t0100 a0001c0023t0122 a0002c0001t0013 a0002c0001t0129 a0002c0001t0133 a0002c0001t0148 a0002c0001t0155 a0002c0001t0194 a0002c0007t0151 a0003c0002t0002 a0003c0002t0008 a0003c0002t0021 a0003c0002t0025 a0003c0002t0057 a0003c0002t0063 a0003c0002t0078 a0003c0002t0080 a0003c0002t0135 a0003c0002t0145 a0003c0002t0152 a0003c0002t0179 a0005c0009t0032 a0009c0026t0007	a0001c0003t0002g0219 a0001c0003t0003g0169 a0001c0003t0003g0189 others(51): Show a0001c0003t0002g0219 a0001c0003t0003g0169 a0001c0003t0003g0189 a0001c0003t0003g0190 a0001c0003t0003g0252 a0001c0003t0003g0262 a0001c0003t0007g0234 a0001c0003t0007g0236 a0001c0003t0029g0198 a0001c0003t0059g0005 a0001c0003t0074g0058 a0001c0003t0083g0053 a0001c0003t0091g0216 a0001c0003t0134g0286 a0001c0004t0008g0017 a0001c0005t0009g0025 a0001c0005t0056g0353 a0001c0005t0076g0148 a0001c0008t0018g0297 a0001c0008t0018g0349 a0001c0008t0018g0350 a0001c0008t0100g0316 a0001c0023t0122g0087 a0002c0001t0013g0160 a0002c0001t0013g0161 a0002c0001t0013g0241 a0002c0001t0129g0317 a0002c0001t0133g0293 a0002c0001t0148g0296 a0002c0001t0155g0272 a0002c0001t0194g0322 a0002c0007t0151g0029 a0003c0002t0002g0059 a0003c0002t0002g0106 a0003c0002t0002g0172 a0003c0002t0002g0201 a0003c0002t0002g0298 a0003c0002t0008g0210 a0003c0002t0008g0281 a0003c0002t0008g0288 a0003c0002t0021g0250 a0003c0002t0025g0078 a0003c0002t0025g0206 a0003c0002t0057g0359 a0003c0002t0063g0170 a0003c0002t0078g0237 a0003c0002t0080g0199 a0003c0002t0135g0213 a0003c0002t0145g0104 a0003c0002t0152g0071 a0003c0002t0179g0331 a0005c0009t0032g0133 a0005c0009t0032g0141 a0009c0026t0007g0218	54	231	0.2338	28	c.78 others(39): Show c.7837_*7838insATATATATATATATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COLEC12_chr18_311737_505701	502333	T T	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTTTTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0190 a0002c0007t0190	a0002c0007t0190g0266 a0002c0007t0190g0266	1	282	0.0035	28	c.-18 others(39): Show c.-1820_-1819insGAAAGAAAGAAAAAAAAGAAAGAAAGAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		1633		chr18	TogoVar
COLGALT2_chr1_183930834_184042728	183977804	A A	AAGAGAGA others(21): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0204 a0001c0001t0009g0204	1	323	0.0031	28	c.374 others(43): Show c.374+605_374+606insCTCTCTCTCTCTCTCTCTCTCTCTCTCT	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11			chr1	TogoVar
COMMD10_chr5_116080025_116298287	116140231	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	101	0.0099	28	c.510 others(45): Show c.510+6078_510+6079insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158123	T T	TCCCTCCC others(21): Show TCCCTCCCTCCCTTCCCCTCCCTCCCTTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	343	0.0029	28	c.510 others(47): Show c.510+23958_510+23985dupTCCCCTCCCTCCCTTCCCCTCCCTCC CT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212496	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01496.hp1 HG01928.hp1 others(11): Show HG01167.hp2 HG01496.hp1 HG01928.hp1 HG02523.hp2 NA18612.hp1 NA18946.hp2 NA18966.hp2 NA18972.hp1 NA18981.hp2 NA18988.hp1 NA18991.hp2 NA19055.hp2 NA19068.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0197 a0001c0001t0001g0198 others(11): Show a0001c0001t0001g0008 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0340	14	168	0.0833	28	c.510 others(47): Show c.510+78345_510+78346insGTGTGTGTGTGTGTGTGTGTGTGTGT GT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212522	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG01069.hp1 others(32): Show HG00438.hp2 HG00673.hp2 HG01069.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG02071.hp2 HG02135.hp1 HG02135.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02647.hp1 HG02683.hp2 HG02922.hp1 HG04115.hp1 NA18612.hp2 NA18949.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18971.hp2 NA18979.hp2 NA19006.hp2 NA19009.hp2 NA19011.hp2 NA19057.hp2 NA19062.hp2 NA19065.hp2 NA19077.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA20752.hp1 NA20905.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0004c0007	a0001c0001t0001 a0001c0002t0001 a0003c0006t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0003c0006t0001 a0004c0007t0001	a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 others(32): Show a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0002t0001g0006 a0001c0002t0001g0096 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0001g0153 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0169 a0001c0002t0001g0182 a0001c0002t0001g0183 a0003c0006t0001g0199 a0004c0007t0001g0194	35	233	0.1502	28	c.510 others(47): Show c.510+78345_510+78346insGTGTGTGTGTGTGTGTGTGTGTGTGT AT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	104	0.0096	28	c.31 others(39): Show c.3119_*3120insAAAAAAAAAAAAAAAAAAAAAAAAAAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD1_chr2_61900674_62141058	62019023	T T	TTCCCTCC others(21): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01943.hp2 HG02056.hp1 others(17): Show HG00408.hp2 HG01943.hp2 HG02056.hp1 HG02145.hp1 HG02280.hp2 HG02630.hp2 HG03540.hp2 NA18612.hp1 NA18946.hp2 NA18949.hp2 NA18962.hp1 NA18969.hp2 NA18973.hp1 NA18975.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19065.hp1 NA19082.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0234 others(17): Show a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286	20	238	0.0840	28	c.462 others(47): Show c.462+18064_462+18065insCTCCCTCCCTCCCTCCCTCCCTCCCT CC	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62063868	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02056.hp2 HG02922.hp2 others(1): Show HG01891.hp1 HG02056.hp2 HG02922.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0102 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0102 a0001c0001t0001g0195	4	27	0.1481	28	c.462 others(47): Show c.462+62889_462+62916dupATATATATATATATATATATATATAT AT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62095807	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01261.hp1 HG02109.hp2 others(7): Show HG00673.hp2 HG01261.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp2 NA18960.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0052 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0160 a0001c0001t0001g0233 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0002g0258	10	114	0.0877	28	c.463 others(47): Show c.463-40010_463-40009insATATATATATATATATATATATATAT AT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(21): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG01167.hp1 others(9): Show HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp2 NA18939.hp1 NA18951.hp1 NA18995.hp2 NA19065.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014	a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0040 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0069 a0001c0001t0001g0133 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0046 a0001c0001t0005g0112 a0001c0001t0005g0115 a0001c0001t0014g0146	12	51	0.2353	28	c.44 others(39): Show c.4494_*4495insCTCTCTCTCTCTCTCTCTCTCTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COMTD1_chr10_75228641_75240957	75232748	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	407	0.0025	28	c.13 others(39): Show c.1324_*1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAA	COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding		892		chr10	TogoVar
COP1_chr1_175939831_176212286	175951437	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02738.hp1 HG02922.hp2 others(8): Show HG02451.hp1 HG02738.hp1 HG02922.hp2 HG03471.hp1 NA18939.hp2 NA18946.hp1 NA18993.hp1 NA19002.hp1 NA19003.hp2 NA19030.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 a0001c0001t0001 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0102 others(8): Show a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0102 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0002t0002g0012 a0002c0003t0001g0262	11	163	0.0675	28	c.213 others(47): Show c.2134-4199_2134-4198insATATATATATATATATATATATATAT AT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CCACACAC others(21): Show CCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA20805.hp1 HG00642.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0240 a0001c0001t0001g0201 a0001c0001t0001g0240	2	10	0.2000	28	c.213 others(47): Show c.2134-8555_2134-8528dupTGTGTGTGTGTGTGTGTGTGTGTGTG TG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176028713	A A	ATATATAT others(21): Show ATATATATATATATATATATATATAGTTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	298	0.0034	28	c.161 others(47): Show c.1613-1026_1613-1025insAAACTATATATATATATATATATATA TA	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	14/19			chr1	TogoVar
COPE_chr19_18894514_18924387	18902756	G G	GAAAGGAA others(21): Show GAAAGGAAGGAAAGGAAGGAAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01192.hp1 others(4): Show HG00099.hp2 HG00323.hp2 HG01192.hp1 HG01928.hp2 HG02293.hp2 HG02683.hp2 HG03017.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0014 a0001c0002 a0005c0014	a0001c0002t0001 a0005c0014t0001 a0001c0002t0001 a0005c0014t0001	a0001c0002t0001g0044 a0001c0002t0001g0100 a0001c0002t0001g0101 others(4): Show a0001c0002t0001g0044 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0213 a0005c0014t0001g0097	7	314	0.0223	28	c.735 others(43): Show c.735+511_735+512insTCCTTCCTTTCCTTCCTTTCCTTCCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPG1_chr3_129244606_129282773	129247224	G G	GTATATGT others(21): Show GTATATGTATATATATGTGTGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG01884.hp2 HG02257.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0014 a0002c0005t0002g0014	2	304	0.0066	28	c.-24 others(39): Show c.-2486_-2485insTATATGTATATATATGTGTGTGTATATA	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding		2381		chr3	TogoVar
COPZ1_chr12_54320131_54356846	54323622	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	118	0.0085	28	c.-15 others(39): Show c.-1542_-1541insTCTTTCTTTCTTTCTTTCTTTCTTTCTT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		1508		chr12	TogoVar
COPZ2_chr17_48021167_48042797	48026119	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG02717.hp2 others(2): Show HG01243.hp1 HG02451.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0011	5	345	0.0145	28	c.30 others(37): Show c.308_*309insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding		47		chr17	TogoVar
COQ7_chr16_19062614_19085095	19077590	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19088.hp1 HG00423.hp2 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0054 a0002c0003t0002g0069 a0002c0003t0002g0054 a0002c0003t0002g0069	2	49	0.0408	28	c.576 others(43): Show c.576+230_576+231insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
COQ8A_chr1_226935294_226992544	226978671	T T	TCCTTACA others(21): Show TCCTTACACACCCTCCACACACCTGCACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01106.hp1 HG02027.hp1 others(27): Show HG00609.hp2 HG01106.hp1 HG02027.hp1 HG02071.hp1 HG02109.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp2 HG03834.hp2 HG06807.hp1 NA18948.hp1 NA18970.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0020 a0002c0004 others(5): Show a0001c0001 a0001c0020 a0002c0004 a0002c0007 a0002c0012 a0002c0013 a0003c0005 a0007c0014	a0001c0001t0001 a0001c0020t0003 a0002c0004t0003 others(5): Show a0001c0001t0001 a0001c0020t0003 a0002c0004t0003 a0002c0007t0003 a0002c0012t0003 a0002c0013t0003 a0003c0005t0005 a0007c0014t0001	a0001c0001t0001g0018 a0001c0001t0001g0072 a0001c0001t0001g0098 others(22): Show a0001c0001t0001g0018 a0001c0001t0001g0072 a0001c0001t0001g0098 a0001c0020t0003g0318 a0002c0004t0003g0021 a0002c0004t0003g0022 a0002c0004t0003g0093 a0002c0004t0003g0094 a0002c0004t0003g0095 a0002c0004t0003g0096 a0002c0004t0003g0186 a0002c0004t0003g0187 a0002c0004t0003g0188 a0002c0007t0003g0044 a0002c0007t0003g0312 a0002c0007t0003g0313 a0002c0012t0003g0141 a0002c0013t0003g0097 a0003c0005t0005g0047 a0003c0005t0005g0328 a0003c0005t0005g0330 a0003c0005t0005g0331 a0003c0005t0005g0332 a0003c0005t0005g0333 a0007c0014t0001g0325	30	410	0.0732	28	c.730 others(45): Show c.730+1152_730+1179dupTACACACCCTCCACACACCTGCACACCT	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8B_chr19_40686530_40721886	40697849	T T	TAGAGAGA others(21): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0273 a0001c0002t0001g0273	1	202	0.0050	28	c.114 others(47): Show c.1144-1796_1144-1795insCTCTCTCTCTCTCTCTCTCTCTCTCT CT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATAGAGA others(21): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 NA18953.hp2 others(1): Show HG00738.hp2 HG01192.hp1 NA18953.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 a0001c0002 a0001c0004 a0002c0001	a0001c0002t0001 a0001c0004t0001 a0002c0001t0001 a0001c0002t0001 a0001c0004t0001 a0002c0001t0001	a0001c0002t0001g0042 a0001c0002t0001g0319 a0001c0004t0001g0249 others(1): Show a0001c0002t0001g0042 a0001c0002t0001g0319 a0001c0004t0001g0249 a0002c0001t0001g0130	4	73	0.0548	28	c.114 others(47): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTCT AT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATAGA others(21): Show TATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18522.hp2 HG02258.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0329 a0001c0004t0001g0245 a0001c0002t0001g0329 a0001c0004t0001g0245	2	71	0.0282	28	c.114 others(47): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTAT AT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697874	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03486.hp1 NA20129.hp2 HG01255.hp1 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0251 a0001c0004t0001g0252 a0001c0004t0001g0264 a0001c0004t0001g0251 a0001c0004t0001g0252 a0001c0004t0001g0264	3	390	0.0077	28	c.114 others(47): Show c.1144-1821_1144-1820insACTCTCTCTCTCTCTCTCTCTCTCTC TC	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18975.hp2 NA18989.hp2 others(3): Show HG02071.hp1 NA18975.hp2 NA18989.hp2 NA19010.hp2 NA19067.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0001g0321 others(3): Show a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0001g0321 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0003t0001g0219	6	225	0.0267	28	c.114 others(47): Show c.1144-1822_1144-1821insGTCTCTCTCTCTCTCTCTCTCTCTCT CT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03516.hp1 HG02486.hp2 HG03516.hp1	a0002 a0012 a0002 a0012	a0002c0030 a0012c0020 a0002c0030 a0012c0020	a0002c0030t0004 a0012c0020t0001 a0002c0030t0004 a0012c0020t0001	a0002c0030t0004g0217 a0012c0020t0001g0172 a0002c0030t0004g0217 a0012c0020t0001g0172	2	95	0.0211	28	c.254 others(45): Show c.2540+474_2540+475insTATATATATATATAGAGAGAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0004 a0001c0022t0004	a0001c0022t0004g0151 a0001c0022t0004g0151	1	94	0.0106	28	c.254 others(45): Show c.2540+474_2540+475insTATATATATATAGAGAGAGAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp1 NA19043.hp1 HG03098.hp2 HG03453.hp1 NA19043.hp1	a0002 a0008 a0002 a0008	a0002c0003 a0008c0012 a0002c0003 a0008c0012	a0002c0003t0004 a0008c0012t0001 a0002c0003t0004 a0008c0012t0001	a0002c0003t0004g0206 a0008c0012t0001g0218 a0008c0012t0001g0219 a0002c0003t0004g0206 a0008c0012t0001g0218 a0008c0012t0001g0219	3	96	0.0313	28	c.254 others(45): Show c.2540+474_2540+475insTATATATATAGAGAGAGAGAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623117	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0182 a0002c0003t0004g0182	1	214	0.0047	28	c.254 others(45): Show c.2540+453_2540+454insGTGTGTGTATATATATATATATATATAT	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18992.hp2 NA18960.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0182 a0001c0001t0001g0074 a0001c0001t0001g0182	2	114	0.0175	28	c.201 others(45): Show c.201+3130_201+3131insTATATATATATATATATATATATATACA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar

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